title: Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
abstract: BACKGROUND
  Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare primordial dwarfism that is similar to Seckel syndrome. Seckel syndrome is known to be associated with various hematological abnormalities; however, hematological findings in MOPD II patients have not been previously reported. The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center.
  
  
  METHODS
  The study included eight patients with MOPD II that were analyzed via molecular testing, and physical and laboratory examinations.
  
  
  RESULTS
  Molecular testing showed that seven of the eight patients had pericentrin (PCNT) gene mutations. Hematological evaluation showed that 7 (87.5%) patients had thrombocytosis, 6 (75%) had leukocytosis, 5 (62.5%) had both leukocytosis and thrombocytosis, and 2 (25%) had anemia.
  
  
  CONCLUSIONS
  We report leukocytosis and thrombocytosis as a common hematologic abnormality in patients with MOPD II. The present findings may improve our understanding of the potential function of the PCNT gene in hematopoietic cell proliferation and differentiation.
authors.affiliation: Department of Pediatric Hematology, Hacettepe University, Ankara, Turkey.
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
authors.forename: Mualla
authors.initials: M
authors.lastname: Cetin
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroglu
authors.forename: Eda
authors.initials: E
authors.lastname: Utine
authors.forename: Valerie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Celine
authors.initials: C
authors.lastname: Huber
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Ozsurekci
authors.forename: Esra
authors.initials: E
authors.lastname: Kilic
authors.forename: Ozlem Pelin
authors.initials: OP
authors.lastname: Simsek Kiper
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
mesh_terms: D018798:Anemia, Iron-Deficiency / Q000175:diagnosis / Q000209:etiology*; D000941:Antigens / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications* / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007964:Leukocytosis / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics; D011379:Prognosis; D013922:Thrombocytosis / Q000175:diagnosis / Q000209:etiology*
chemical_list: D000941:Antigens; C086178:pericentrin
keywords: MOPD II; leukocytosis; pericentrin; thrombocytosis